Testing & Diagnosis for Radial Dysplasia (radial club hand, radial longitudinal deficiency) in Children

At Boston Children's Hospital, we understand that the first step to treating your child is obtaining an accurate, timely and thorough diagnosis.

Radial dysplasia can sometimes be seen by ultrasound prenatally, and is apparent at birth. Your doctor will use a physical exam and x-rays to assess the underlying structure of your baby’s deformity and determine a course of treatment.

If your child is diagnosed with a radial dysplasia, your doctor will check for other associated deformities or syndromes, including problems with her:

•   heart (such as Holt-Oram syndrome, also called hand-heart syndrome)
•   kidneys, spinal column and/or digestive system (such as VACTERL syndrome)
•   blood cells (such as Fanconi anemia)
•   thrombocytopenia absent radius (TAR)
•   other bones/joints  
•   muscles/tendons  
•   nerves/arteries

What are the four types on radial dysplasia?

In most types of radial dysplasia, there can also be varying degrees of absent muscles, nerves and blood vessels — there’s a broad variability with each type and each case.

In diagnosing the condition, your doctor will likely classify it as one of the following four types: 

Type 1

Type 2

•   mildest form of radial dysplasia
•   mild deviation of the wrist
•   underdevelopment of thumb may occur
•   problems that can result from more severe forms, such
    as loss of motion, usually don’t occur
•   typically, surgery required only to correct
    underdeveloped thumb (if present)

•   limited growth of your child’s radius on both
•   wrist turned toward the radius, ulna bows out
•   underdevelopment of the thumb is usually more
    significant (if present)

Type 3

Type 4

•   partial absence of the radius
•   wrist severely deviated, hand has limited support
•   ulna is thickened and bowed
•   associated problems with thumb and fingers, such as
    underdevelopment or camptodactyly, a deformity in the
    finger joints that causes a flexed finger or fingers (may
    be present)

•   most common and most severe form
•   complete absence of the radius (absent radius)
•   complete or near-complete absence of the
    thumb (thumb hypoplasia/aplasia)
•   causes many limitations in the function of your
    child’s hand, wrist and forearm
•   ulna bowing is the most severe
•   index, long and ring fingers may be involved
•   elbow may have limited range of motion